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Molecular genetic characterization of a prenatally detected 1.484-Mb Xq13.3-q21.1 duplication encompassing ATRX and a literature review of syndromic intellectual disability and congenital abnormalities in males with a duplication at Xq13.3-q21.1.
Chen CP, Yip HK, Wang LK, Chern SR, Chen SW, Lai ST, Wu PS, Wang W. Chen CP, et al. Among authors: lai st. Taiwan J Obstet Gynecol. 2017 Jun;56(3):385-389. doi: 10.1016/j.tjog.2017.04.023. Taiwan J Obstet Gynecol. 2017. PMID: 28600056 Free article. Review.
Molecular genetic characterization of a prenatally detected de novo interstitial deletion of chromosome 20p (20p12-p13) encompassing JAG1 and a literature review of prenatal diagnosis of Alagille syndrome.
Chen CP, Yin CS, Wang LK, Chern SR, Chen SW, Lai ST, Wu PS, Chen WL, Wang W. Chen CP, et al. Among authors: lai st. Taiwan J Obstet Gynecol. 2017 Jun;56(3):390-393. doi: 10.1016/j.tjog.2017.04.024. Taiwan J Obstet Gynecol. 2017. PMID: 28600057 Free article.
Molecular genetic characterization of a prenatally detected de novo interstitial deletion of chromosome 2q (2q31.1-q32.1) encompassing HOXD13, ZNF385B and ZNF804A associated with syndactyly and increased first-trimester nuchal translucency.
Chen CP, Lin CJ, Chen YN, Chern SR, Chen SW, Lai ST, Wu PS, Chen LF, Wang W. Chen CP, et al. Among authors: lai st. Taiwan J Obstet Gynecol. 2017 Jun;56(3):398-401. doi: 10.1016/j.tjog.2017.04.026. Taiwan J Obstet Gynecol. 2017. PMID: 28600059 Free article.
Molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from chromosome 7 in the male partner of a phenotypically normal couple with repeated spontaneous abortions.
Chen CP, Chen M, Hwu YM, Chang SP, Chen SW, Lai ST, Lee CC, Wang W. Chen CP, et al. Among authors: lai st. Taiwan J Obstet Gynecol. 2017 Jun;56(3):410-411. doi: 10.1016/j.tjog.2017.04.029. Taiwan J Obstet Gynecol. 2017. PMID: 28600063 Free article. No abstract available.
Pfeiffer syndrome with FGFR2 C342R mutation presenting extreme proptosis, craniosynostosis, hearing loss, ventriculomegaly, broad great toes and thumbs, maxillary hypoplasia, and laryngomalacia.
Chen CP, Lin SP, Liu YP, Chern SR, Chen SW, Lai ST, Wang W. Chen CP, et al. Among authors: lai st. Taiwan J Obstet Gynecol. 2017 Jun;56(3):412-414. doi: 10.1016/j.tjog.2017.04.030. Taiwan J Obstet Gynecol. 2017. PMID: 28600064 Free article. No abstract available.
239 results